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001-es BibID:	BIBFORM107654
035-os BibID:	(Scopus)85146857319 (WoS)000920608400001
Első szerző:	Styk, Jakub
Cím:	Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine : status quo and outlook / Styk Jakub, Pös Zuzana, Pös Ondrej, Radvanszky Jan, Turnova Evelina Hrckova, Buglyó Gergely, Klimova Daniela, Budis Jaroslav, Repiska Vanda, Nagy Bálint, Szemes Tomas
Dátum:	2023
ISSN:	1878-5077 1878-5085
Megjegyzések:	A form of genomic alteration called microsatellite instability (MSI) occurs in a class of tandem repeats (TRs) called microsatellites (MSs) or short tandem repeats (STRs) due to the failure of a post-replicative DNA mismatch repair (MMR) system. Traditionally, the strategies for determining MSI events have been low-throughput procedures that typically require assessment of tumours as well as healthy samples. On the other hand, recent large-scale pan-tumour studies have consistently highlighted the potential of massively parallel sequencing (MPS) on the MSI scale. As a result of recent innovations, minimally invasive methods show a high potential to be integrated into the clinical routine and delivery of adapted medical care to all patients. Along with advances in sequencing technologies and their ever-increasing cost-effectiveness, they may bring about a new era of Predictive, Preventive and Personalised Medicine (3PM). In this paper, we offered a comprehensive analysis of high-throughput strategies and computational tools for the calling and assessment of MSI events, including whole-genome, whole-exome and targeted sequencing approaches. We also discussed in detail the detection of MSI status by current MPS blood-based methods and we hypothesised how they may contribute to the shift from conventional medicine to predictive diagnosis, targeted prevention and personalised medical services. Increasing the efficacy of patient stratification based on MSI status is crucial for tailored decision-making. Contextually, this paper highlights drawbacks both at the technical level and those embedded deeper in cellular/molecular processes and future applications in routine clinical testing.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Microsatellite instability Cancer Screening Massively parallel sequencing Liquid biopsy Patient stratification Predictive Preventive Personalised Medicine (PPPM / 3PM)
Megjelenés:	EPMA Journal. - 14 : 1 (2023), p. 143-165. -
További szerzők:	Pös, Zuzana Pös, Ondrej (1990-) (biológus) Radvanszky, Jan Turnova, Evelina Hrckova Buglyó Gergely (1980-) (genetikus) Klimova, Daniela Budis, Jaroslav Repiska Vanda Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
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